Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report

Authors

Morgan L. Day, Department of Pediatrics University of New Mexico Children's Hospital Albuquerque New Mexico USA
Crystal C. Avila, Department of Pediatrics University of New Mexico Children's Hospital Albuquerque New Mexico USA
Dawn L. Novak, Department of Neonatology University of New Mexico Children's Hospital Albuquerque New Mexico USA

Document Type

Article

Publication Date

2-1-2022

Abstract

This case report is of a 35-week female neonate with a cystic abdominal mass. Physical examination was notable for post-axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet-Biedl Syndrome (BBS), an autosomal recessive ciliopathy. Genetic panel revealed she was a carrier for a BBS mutation.

Publication Title

Clin Case Rep

ISSN

2050-0904

Volume

10

Issue

2

First Page

05453

Last Page

05453

DOI

10.1002/ccr3.5453

Recommended Citation

Day ML, Avila CC, Novak DL. Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report. Clin Case Rep. 2022 Feb 16;10(2):e05453. doi: 10.1002/ccr3.5453. PMID: 35223016; PMCID: PMC8850395.